When asked his most important piece of advice for families within the rare disease community, Jeffrey Lord said:

Do what you can control and move on from there. Every day, we wake up and say that we’re in a new state of normal. Because tomorrow, normal may change. Routine is important but flexibility to that routine is critical, especially when you’re facing unknown challenges. So take every moment as it comes and try to focus on what you can control and what you can’t.

Jeff and his wife, Eden, are no strangers to the complexities of the rare disease world. Eden herself is a rare disease patient and advocate, and their daughter, Cambria, was diagnosed with multiple rare conditions. Now, Eden is the Founder and CEO of The Dash Alliance and has pioneered multiple events and conferences within this realm. As the CTO of The Dash Alliance, and a passionate rare parent, Jeff also remains incredibly committed to creating actionable change for those within the rare disease world.

One such tool for change? “My Rare ID,” a digital platform which hosts digital health profiles for rare disease patients and families, alongside a unique suite of tools to assist families during an emergency, educate physicians, and help ensure more personalized treatments for patients.

Recently, Jeff and I sat down to discuss his daughter Cambria’s diagnosis, how he and Eden conceptualized My Rare ID, the need for personalized treatment protocols for those with rare diseases, and advice for families within this sphere.

The Lord Family’s Story

If you ask Jeff and Eden, they’d probably say that Eden’s pregnancy with daughter Cambria was fairly uneventful. They welcomed Cambria into the world in 2009 with open arms and lots of smiles. At first, the parents were slightly concerned about Cambria; she was born jaundiced and with hypoglycemia. However, after a relatively quick recovery, Cambria went home with her parents and her older sibling.

Just four months later, Cambria suffered from an adrenal crisis. Jeff explains:

She crashed and we rushed her to the ER. Tests showed that her blood sugar level was 23 mg/dL. For context, 70 mg/dL is considered low and anything under 54 is considered to be an emergency. Eventually, we were transferred to Children’s Mercy Kansas City, where Cambria spent one week in the NICU.

Following her time in the NICU, Cambria was eventually diagnosed with two rare conditions: adrenal insufficiency and panhypopituitarism. Despite the diagnoses, Jeff and Eden were given little information on either condition; they were also not given an effective care or management plan. Jeff shares:

We were given a yellow post-it note that said wake her up every one to two hours, feed her apple juice and cornstarch, and that’ll keep her blood sugar stable until we can treat her. Many patients with panhypopituitarism have a tumor that needs to be removed but in Cambria’s case, she had a genetic deletion that caused her posterior and anterior glands to be misaligned. They explained that, but they didn’t even write down the name of the disease or put it on her discharge papers. We didn’t know what either condition was or that adrenal insufficiency can be a silent killer. Really, doctors told us nothing.

Eden said that if she could remember “Peter Pan,” she could remember “PanPit,” an abbreviated name for panhypopituitarism. When the family got home from the hospital, Eden dove into research. At the time, the family didn’t know about any foundations for either condition. But that didn’t stop Eden. She eventually called the National Institutes of Health (NIH) and connected with many doctors, sharing Cambria’s story. This really resonated with doctors and researchers, who thought that Cambria’s condition seemed very unique. In fact, shares Jeff:

The doctors even created a protocol around Cambria. She’s gone three times to be studied and to see what the best protocol treatment is for her, and they got us on the right track. They’re kind of our heroes.

What are Panhypopituitarism and Adrenal Insufficiency?

Panhypopituitarism

The Cleveland Clinic describes panhypopituitarism as:

a rare condition in which there’s a lack (deficiency) of all of the hormones your pituitary gland makes, [such as growth hormone, prolactin, thyroid-stimulating hormone, adrenocorticotropic hormone, and follicle-stimulating hormone that] are in charge of several important functions in your body. Panhypopituitarism causes several symptoms since all of your pituitary hormones are lower than what they should be.

Symptoms and characteristics can (but do not always) include:

• Prolonged jaundice (yellowing of the skin, eyes, and mucous membranes) in newborns
• Slowed growth
• Delayed puberty
• Fatigue
• Frequent infections
• Nausea
• Dizziness
• Low blood sugar
• Dry skin
• Unintended weight loss or weight gain
• Rapid heart rate
• Depression or anxiety
• Excessive thirst and urination
• Sensitivity to cold
• Adrenal crisis

Adrenal Insufficiency

Adrenal insufficiency, also known as Addison’s disease, occurs when the adrenal glands fail to produce enough cortisol and aldosterone (hormones). Typically, this is caused by an autoimmune reaction, though it may also be caused by cancer, CMV virus, chronic infections, surgical removal of the adrenal glands, or an adrenal hemorrhage. Normally, cortisol plays a role in blood sugar regulation, inflammation regulation, and nutrient flow, while aldosterone regulates salt and water levels. Symptoms associated with adrenal insufficiency include:

• Fatigue
• Appetite loss
• Unintended weight loss
• Nausea and/or vomiting
• Low blood pressure
• Darkening skin
• Irritability or depression
• Cravings for salty food

MobiMedQR: The Start of Something New

After Jeff and Eden had gotten some traction in pursuing Cambria’s care, they sat down and began to wonder how other families within the rare disease community dealt with their own diagnostic and care journeys. How many parents were – like Eden and Jeff once were – sitting at the kitchen counter in the middle of the night, trying to dig through research? Were these families getting the answers that they needed? It was at this point that Jeff and Eden began to see where this unmet need was within this community.

The next thing that spurred them into action was the fact that Cambria was not responding well to treatment. Every time the family left the house, they would need to bring certain formulas and gels with them to make sure that Cambria could regulate her blood sugar. Jeff shares:

Through research, Eden also learned that there is an emergency liquid cortisol injection that we need to carry. Without enough cortisol, the body can shut down and you can be in a fatal crisis within the hour. Having that injection would, if we needed it, provide some time to get Cambria somewhere for more care.

But as we started exploring this option more, we realized that this emergency injection wasn’t carried on ambulances. While the emergency room had access to it, it wasn’t stocked on the ER floor because it wasn’t used regularly. Suddenly, we were faced with a really harrowing question. If we had an accident, how is someone going to know to give her that shot? If she fell at school or broke a bone, she has to have that shot immediately.

Driven by a concern for other families, and the desire to ensure that their own daughter was taken care of in case of an emergency, Jeff and Eden began brainstorming ways to make a change. They wanted to create an online tool that could be accessible from anywhere.

So MobiMedQR, which provides QR-based access to an emergency medical record, was born in 2015. This tool was even pitched to the Shark Tank producers!

Join us in Part 2 as we discuss the transition from MobiMedQR to “My Rare ID,” the ease, access, and resources of My Rare ID, and Jeff’s advice for rare disease families.